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Neurodevelopmental disorder with microcephaly, short stature, and speech delay

Summary

Neurodevelopmental disorder with microcephaly, short stature, and speech delay (NEDMISS) is an autosomal recessive disorder characterized by global developmental delay with severely impaired intellectual development usually accompanied by behavioral abnormalities. Other features may include hypotonia, abnormal gait, mild dysmorphism, and seizures (Rawlins et al., 2022). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: EHOC-1, EHOC1, GT334, NEDMISS, TMEM1, TRS130, TRS30, TRAPPC10
    Summary: trafficking protein particle complex subunit 10

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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